WordNet
- abnormal development (of organs or cells) or an abnormal structure resulting from such growth
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/26 16:54:51」(JST)
[Wiki en表示]
| Kniest dysplasia |
| Classification and external resources |
| ICD-10 |
Q77.8 |
| OMIM |
156550 |
| DiseasesDB |
31947 |
Kniest dysplasia is an uncommon inherited disorder of bone growth. The condition is characterized by dwarfism, enlarged joints, and other skeletal abnormalities, and problems with vision and hearing. Kniest dysplasia is a subtype of collagenopathy, types II and XI.
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Contents
- 1 Presentation
- 2 Genetics
- 3 Eponynm
- 4 References
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Presentation
People with this condition are short-statured from birth, with a short trunk, shortened limbs, and large joints. Adult height ranges from 107 to 147 cm (42 inches to 58 inches). Progressive joint enlargement and pain restrict joint movement, which limits activity and interferes with standing and walking. These joint problems can also lead to arthritis. Other skeletal signs include a progressively shortened spine due to spinal curvature (kyphoscoliosis and lumbar lordosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and occasionally a foot deformity called clubfoot.
People with Kniest dysplasia have round, flat faces with prominent and wide-set eyes. Some infants are born with an opening in the roof of the mouth (a cleft palate). Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) is common, as are other eye problems that can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.
Genetics
Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other Connective Tissues. Mutations in the COL2A1 gene that cause Kniest dysplasia interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of the disorder.
Kniest dysplasia is inherited in an autosomal dominant pattern.
Kniest dysplasia is inherited in an autosomal dominant pattern, which means only one copy of the altered gene is necessary to cause the disorder.
Eponynm
It is named for Wilhelm Kniest.[1]
References
- ^ synd/2170 at Who Named It?
This article incorporates public domain text from The U.S. National Library of Medicine
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Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)
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| Collagen disease |
COL1: Osteogenesis imperfecta · Ehlers–Danlos syndrome, types 1, 2, 7
COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11)
COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome)
COL4: Alport syndrome
COL5: Ehlers–Danlos syndrome, types 1 & 2
COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy
COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn
COL8: Fuchs' dystrophy 1
COL9: Multiple epiphyseal dysplasia 2, 3, 6
COL10: Schmid metaphyseal chondrodysplasia
COL11: Weissenbacher–Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11)
COL17: Bullous pemphigoid
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| Laminin |
Junctional epidermolysis bullosa · Laryngoonychocutaneous syndrome
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| Other |
Congenital stromal corneal dystrophy · Raine syndrome · Urbach–Wiethe disease · TECTA (DFNA8/12, DFNB21)
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see also fibrous proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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UpToDate Contents
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English Journal
- Association between kniest dysplasia and chondrosarcoma in a child.
- Hochart A1, Dieux A2, Coucke P3, Fron D4, Fayoux P5, Labalette P6, Boutry N7, Escande F8, Aubert S9, Renaud F9, Rocourt N10, Vinchon M11, Leblond P1,12.
- American journal of medical genetics. Part A.Am J Med Genet A.2015 Sep 8. doi: 10.1002/ajmg.a.37361. [Epub ahead of print]
- Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and
- PMID 26345137
- [Kniest dysplasia due to mutation of COL2A1 gene].
- Wu M1, Liu L, Zhou Z, Sheng H, Yin X, Li X, Cheng J, Huang Y, Cai Y, Li C, Fan L, Liu H.
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2015 Jun;32(3):323-6. doi: 10.3760/cma.j.issn.1003-9406.2015.03.004.
- OBJECTIVE: To detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.METHODS: The 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.RESULTS: A missense mutation (c.905C>T, p.Ala302Val) was f
- PMID 26037341
Japanese Journal
- AT III欠損症を合併した Kniest 症候群女児の両尖足変形に対する周術期経験
- 吉井 理一郎,田中 源幸,神囿 純一,栫 博則,永野 聡,吉野 伸司,石堂 康弘,小宮 節郎
- 整形外科と災害外科 61(4), 807-810, 2012-09-25
- NAID 10031013914
- Kniest dysplasia患者の挿管困難に対してパーカー気管チューブが有用であった1症例
Related Links
- Consumer-friendly information about human genetics from the U.S. National Library of Medicine. ... Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities ...
- Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. [1] The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal ...
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